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1. Loneliness as neurobehavioral issue in amyotrophic lateral sclerosis

Author

Monica Consonni, Veronica Faltracco, Eleonora Dalla Bella, Alessandra Telesca, Enrica Bersano, Anna Nigri, Greta Demichelis, Jean P. Medina, Maria G. Bruzzone, and Giuseppe Lauria

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective In elderly people loneliness represents a risk factor for dementia and may negatively impact on mental and physical health. The specific contribute of loneliness to cognitive and behavioral functioning have not yet been determined in amyotrophic lateral sclerosis (ALS). Our hypothesis was that loneliness may be related to motor dysfunction with a negative impact on cognitive and behavioral decline, possibly related to specific cortical involvement. Methods In 200 ALS patients (ALSpts) and 50 healthy controls (HCs) we measured loneliness, mood, and quality of life (QoL). ALSpts underwent comprehensive clinical, genetic, and neuropsychological assessment to define phenotypes. Seventy‐seven ALSpts performed 3T MRI scans to measure cortical thickness. Between‐group, partial correlation and regression analyses were used to examined clinical, neuropsychological, and cortical signatures of loneliness. Results Feelings of loneliness were documented in 38% of ALSpts (ALS/L+pts) and in 47% of HCs. In both groups loneliness was associated with anxiety (P

Published
2024
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2. Urinary extracellular vesicles as a monitoring tool for renal damage in patients not meeting criteria for chronic kidney disease

Author

Miriam Anfaiha‐Sanchez, Aranzazu Santiago‐Hernandez, Juan Antonio Lopez, Nerea Lago‐Baameiro, Maria Pardo, Ariadna Martin‐Blazquez, Jesus Vazquez, Gema Ruiz‐Hurtado, Maria G. Barderas, Julian Segura, Luis M. Ruilope, Marta Martin‐Lorenzo, and Gloria Alvarez‐Llamas

Subjects
albuminuria, AMN, cardiovascular risk, chronic kidney disease, ExoView, extracellular vesicles, Cytology, QH573-671
Abstract

Abstract Background Current definition of chronic kidney disease (CKD) identifies only advanced stages, but effective management demands early detection. Urinary albumin‐to‐creatinine ratio (ACR) 30 mg/g is a cut‐off point for CKD clinical diagnosis. Patients with lower values (normoalbuminuria) and eGFR > 60 mL/min/1.73 m2 are considered at no increased cardiorenal risk. However, higher incidence of renal function decline and cardiovascular events have been shown within the normoalbuminuria range. Novel subclinical indicators may help to identify higher‐risk patients. Urinary extracellular vesicles (uEVs) are sentinels of renal function non‐invasively. Here we aimed to approach the early assessment of cardiorenal risk by investigating the protein cargo of uEVs. Methods Hypertensive patients were classified in control group (C) with ACR 6200 uEVs proteins identified, 43 define a panel significantly altered in HN patients without variation in urine, mostly annotated in the tubule (39 out of 43). The tubular transporter long‐chain fatty acid transport protein 2 (SLC27A2) and the apical membrane protein amnionless (AMN) confirmed their alteration in HN patients evidencing impaired tubular reabsorption. SLC27A2 showed tubular expression and significantly reduced levels in patients with diagnostic criteria for CKD. Conclusions Alterations in the EV‐mediated molecular profile are evident before pathological ACR levels are reached. Direct quantitation of SLC27A2 and AMN in uEVs helps identifying normoalbuminuric subjects with higher cardiorenal risk in early monitoring of CKD.

Published
2024
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3. Programmable Carbon Nanotube Networks: Controlling Optical Properties Through Orientation and Interaction

Author

Kirill V. Voronin, Georgy A. Ermolaev, Maria G. Burdanova, Aleksandr S. Slavich, Adilet N. Toksumakov, Dmitry I. Yakubovsky, Maksim I. Paukov, Ying Xie, Liu Qian, Daria S. Kopylova, Dmitry V. Krasnikov, Davit A. Ghazaryan, Denis G. Baranov, Alexander I. Chernov, Albert G. Nasibulin, Jin Zhang, Aleksey V. Arsenin, and Valentyn Volkov

Subjects
1D materials, carbon nanotubes, optical anisotropy, Science
Abstract

Abstract The lattice geometry of natural materials and the structural geometry of artificial materials are crucial factors determining their physical properties. Most materials have predetermined geometries that lead to fixed physical characteristics. Here, the demonstration of a carbon nanotube network serves as an example of a system with controllable orientation achieving on‐demand optical properties. Such a network allows programming their optical response depending on the orientation of the constituent carbon nanotubes and leads to the switching of its dielectric tensor from isotropic to anisotropic. Furthermore, it also allows for the achievement of wavelength‐dispersion for their principal optical axes – a recently discovered phenomenon in van der Waals triclinic crystals. The results originate from two unique carbon nanotubes features: uniaxial anisotropy from the well‐defined cylindrical geometry and the intersection interaction among individual carbon nanotubes. The findings demonstrate that shaping the relative orientations of carbon nanotubes or other quasi‐one‐dimensional materials of cylindrical symmetry within a network paves the way to a universal method for the creation of systems with desired optical properties.

Published
2024
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4. Resting‐state fMRI functional connectome of C9orf72 mutation status

Author

Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean P. Medina Carrion, Sara Palermo, Paola Sciortino, Maurizio Cogoni, Federica Agosta, Silvia Basaia, Massimo Filippi, Marina Grisoli, Maria C. Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Maria G. Bruzzone, Adriano Chiò, Anna Nigri, and Cristina Moglia

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective The resting‐state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status. Methods Here we studied the network‐to‐network connectivity of 19 ALS patients carrying the C9orf72 hexanucleotide repeat expansion (C9orf72+), 19 ALS patients not affected by C9orf72 mutation (C9orf72−), and 19 ALS‐mimic patients (ALSm) well‐matched for demographic and clinical variables. Results When compared with ALSm, we observed greater connectivity of the default mode and frontoparietal networks with the visual network for C9orf72+ patients (P = 0.001). Moreover, the whole‐connectome showed greater node degree (P

Published
2024
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5. Spatiotemporal Insights into Glioma Oncostream Dynamics: Unraveling Formation, Stability, and Disassembly Pathways

Author

Syed M. Faisal, Jarred E. Clewner, Brooklyn Stack, Maria L. Varela, Andrea Comba, Grace Abbud, Sebastien Motsch, Maria G. Castro, and Pedro R. Lowenstein

Subjects
anti‐invasive pharmacologic agents, collective invasion, glioblastoma, migration, oncostreams, spatiotemporal dynamics, Science
Abstract

Abstract Glioblastoma (GBM) remains a challenge in Neuro‐oncology, with a poor prognosis showing only a 5% survival rate beyond two years. This is primarily due to its aggressiveness and intra‐tumoral heterogeneity, which limits complete surgical resection and reduces the efficacy of existing treatments. The existence of oncostreams—neuropathological structures comprising aligned spindle‐like cells from both tumor and non‐tumor origins‐ is discovered earlier. Oncostreams are closely linked to glioma aggressiveness and facilitate the spread into adjacent healthy brain tissue. A unique molecular signature intrinsic to oncostreams, with overexpression of key genes (i.e., COL1A1, ACTA2) that drive the tumor's mesenchymal transition and malignancy is also identified. Pre‐clinical studies on genetically engineered mouse models demonstrated that COL1A1 inhibition disrupts oncostreams, modifies TME, reduces mesenchymal gene expression, and extends survival. An in vitro model using GFP+ NPA cells to investigate how various treatments affect oncostream dynamics is developed. Analysis showed that factors such as cell density, morphology, neurotransmitter agonists, calcium chelators, and cytoskeleton‐targeting drugs influence oncostream formation. This data illuminate the patterns of glioma migration and suggest anti‐invasion strategies that can improve GBM patient outcomes when combined with traditional therapies. This work highlights the potential of targeting oncostreams to control glioma invasion and enhance treatment efficacy.

Published
2024
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6. AZD9567 versus prednisolone in patients with active rheumatoid arthritis: A phase IIa, randomized, double‐blind, efficacy, and safety study

Author

Jacob M. vanLaar, Alejhandra Lei, Mary Safy‐Khan, Joachim Almquist, Graham Belfield, Karl Edman, Lisa Öberg, Bastian R. Angermann, Inken Dillmann, Pia Berntsson, Damla Etal, Ian Dainty, Carol Astbury, Maria G. Belvisi, Szilárd Nemes, Adam Platt, Susanne Prothon, Sara Samuelsson, Petter Svanberg, Christina Keen, and the SEMRA study group

Subjects
Therapeutics. Pharmacology, RM1-950, Public aspects of medicine, RA1-1270
Abstract

Abstract Oral corticosteroid use is limited by side effects, some caused by off‐target actions on the mineralocorticoid receptor that disrupt electrolyte balance. AZD9567 is a selective, nonsteroidal glucocorticoid receptor modulator. The efficacy, safety, and tolerability of AZD9567 and prednisolone were assessed in a phase IIa study. Anti‐inflammatory mechanism of action was also evaluated in vitro in monocytes from healthy donors. In this randomized, double‐blind, parallel‐group, multicenter study, patients with active rheumatoid arthritis were randomized 1:1 to AZD9567 40 mg or prednisolone 20 mg once daily orally for 14 days. The primary end point was change from baseline in DAS28‐CRP at day 15. Secondary end points included components of DAS28‐CRP, American College of Rheumatology (ACR) response criteria (ACR20, ACR50, and ACR70), and safety end points, including serum electrolytes. Overall, 21 patients were randomized to AZD9567 (n = 11) or prednisolone (n = 10), and all completed the study. As anticipated, AZD9567 had a similar efficacy profile to prednisolone, with no clinically meaningful (i.e., >1.0) difference in change from baseline to day 15 in DAS28‐CRP between AZD9567 and prednisolone (least‐squares mean difference: 0.47, 95% confidence interval: −0.49 to 1.43). Similar results were observed for the secondary efficacy end points. In vitro transcriptomic analysis showed that anti‐inflammatory responses were similar for AZD9567, prednisolone, and dexamethasone. Unlike prednisolone, AZD9567 had no effect on the serum sodium:potassium ratio. The safety profile was not different from that of prednisolone. Larger studies of longer duration are required to determine whether AZD9567 40 mg may in the future be an alternative to prednisolone in patients with inflammatory disease.

Published
2023
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7. Impella Versus Intra‐Aortic Balloon Pump in Patients With Cardiogenic Shock Treated With Venoarterial Extracorporeal Membrane Oxygenation: An Observational Study

Author

Ilhwan Yeo, Rachel Axman, Daniel Y. Lu, Dmitriy N. Feldman, Jim W. Cheung, Robert M. Minutello, Maria G. Karas, Erin M. Iannacone, Ankur Srivastava, Natalia I. Girardi, Yoshifumi Naka, Shing‐Chiu Wong, and Luke K. Kim

Subjects
IABP, Impella, left ventricular unloading, VA‐ECMO, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Venoarterial extracorporeal membrane oxygenation (VA‐ECMO) is increasingly used for patients with cardiogenic shock. Although Impella or intra‐aortic balloon pump (IABP) is frequently used for left ventricular unloading (LVU) during VA‐ECMO treatment, there are limited data on comparative outcomes. We compared outcomes of Impella and IABP for LVU during VA‐ECMO. Methods and Results Using the Nationwide Readmissions Database between 2016 and 2020, we analyzed outcomes in 3 groups of patients with cardiogenic shock requiring VA‐ECMO based on LVU strategies: extracorporeal membrane oxygenation (ECMO) only, ECMO with IABP, and ECMO with Impella. Of 15 980 patients on VA‐ECMO, IABP and Impella were used in 19.4% and 16.4%, respectively. The proportion of patients receiving Impella significantly increased from 2016 to 2020 (6.5% versus 25.8%; P‐trend

Published
2024
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8. Staging Parkinson's disease according to the MNCD classification correlates with caregiver burden

Author

Diego Santos‐García, Teresa deDeus Fonticoba, Carlos Cores Bartolomé, María J. Feal Painceiras, Iago García Díaz, María Cristina Íñiguez Alvarado, Jose Manuel Paz, Silvia Jesús, Marina Cosgaya, Juan García Caldentey, Nuria Caballol, Ines Legarda, Jorge Hernández Vara, Iria Cabo, Lydia López Manzanares, Isabel González Aramburu, Maria A. Ávila Rivera, Víctor Gómez Mayordomo, Víctor Nogueira, Julio Dotor García‐Soto, Carmen Borrué, Berta Solano Vila, María Álvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Zebenzui Mendoza, Juan C. Martínez Castrillo, Pilar Sánchez Alonso, Maria G. Alonso Losada, Nuria López Ariztegui, Itziar Gastón, Jaime Kulisevsky, Manuel Seijo, Caridad Valero, Ruben Alonso Redondo, Maria Teresa Buongiorno, Carlos Ordás, Manuel Menéndez‐González, Darrian McAfee, Pablo Martinez‐Martin, Pablo Mir, and COPPADIS Study Group

Subjects
burden, caregiver, non‐motor symptoms, Parkinson's disease, stage, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Background and objective Recently, we demonstrated that staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (motor, non‐motor, cognition, and dependency) and five stages, correlated with disease severity and patients’ quality of life. Here, we analyzed the correlation of MNCD staging with PD caregiver's status. Patients and methods Data from the baseline visit of PD patients and their principal caregiver recruited from 35 centers in Spain from the COPPADIS cohort from January 2016 to November 2017 were used to apply the MNCD total score (from 0 to 12) and MNCD stages (from 1 to 5) in this cross‐sectional analysis. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory‐II (BDI‐II), PQ‐10, and EUROHIS‐QOL 8‐item index (EUROHIS‐QOL8). Results Two hundred and twenty‐four PD patients (63 ± 9.6 years old; 61.2% males) and their caregivers (58.5 ± 12.1 years old; 67.9% females) were included. The frequency of MNCD stages was 1, 7.6%; 2, 58.9%; 3, 31.3%; and 4–5, 2.2%. A more advanced MNCD stage was associated with a higher score on the ZCBI (p

Published
2023
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11. Expanding THz Vortex Generation Functionality with Advanced Spiral Zone Plates Based on Single‐Walled Carbon Nanotube Films

Author

Radivon, Arina V., primary, Katyba, Gleb M., additional, Raginov, Nikita I., additional, Chernykh, Aleksey V., additional, Ezerskii, Aleksei S., additional, Tsiplakova, Elizaveta G., additional, Rakov, Ignat I., additional, Paukov, Maksim I., additional, Starchenko, Vladimir V., additional, Arsenin, Aleksey V., additional, Spector, Igor E., additional, Zaytsev, Kirill I., additional, Krasnikov, Dmitry V., additional, Petrov, Nikolay V., additional, Nasibulin, Albert G., additional, Volkov, Valentyn, additional, and Burdanova, Maria G., additional

Published
2024
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14. Loneliness as neurobehavioral issue in amyotrophic lateral sclerosis

Author

Consonni, Monica, primary, Faltracco, Veronica, additional, Dalla Bella, Eleonora, additional, Telesca, Alessandra, additional, Bersano, Enrica, additional, Nigri, Anna, additional, Demichelis, Greta, additional, Medina, Jean P., additional, Bruzzone, Maria G., additional, and Lauria, Giuseppe, additional

Published
2024
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15. Water Treatment for Purification from Cyanobacteria and Cyanotoxins

Author

Anastasia E. Hiskia, Theodoros M. Triantis, Maria G. Antoniou, Triantafyllos Kaloudis, Dionysios D. Dionysiou, Anastasia E. Hiskia, Theodoros M. Triantis, Maria G. Antoniou, Triantafyllos Kaloudis, Dionysios D. Dionysiou and Anastasia E. Hiskia, Theodoros M. Triantis, Maria G. Antoniou, Triantafyllos Kaloudis, Dionysios D. Dionysiou, Anastasia E. Hiskia, Theodoros M. Triantis, Maria G. Antoniou, Triantafyllos Kaloudis, Dionysios D. Dionysiou

Published
2020

16. Resting‐state fMRI functional connectome of C9orf72 mutation status

Author

Stanziano, Mario, primary, Fedeli, Davide, additional, Manera, Umberto, additional, Ferraro, Stefania, additional, Medina Carrion, Jean P., additional, Palermo, Sara, additional, Sciortino, Paola, additional, Cogoni, Maurizio, additional, Agosta, Federica, additional, Basaia, Silvia, additional, Filippi, Massimo, additional, Grisoli, Marina, additional, Valentini, Maria C., additional, De Mattei, Filippo, additional, Canosa, Antonio, additional, Calvo, Andrea, additional, Bruzzone, Maria G., additional, Chiò, Adriano, additional, Nigri, Anna, additional, and Moglia, Cristina, additional

Published
2024
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17. Unplanned cesarean sections in advanced maternal age: A predictive model

Author

Veenstra, Joyce, primary, Cohen, Zoë, additional, Korteweg, Fleurisca J., additional, van der Ham, David P., additional, Kuppens, Simone M., additional, Kroese, Janna A., additional, Hermsen, Brenda B., additional, Kamphuis, Marije M., additional, Vanhommerig, Joost W., additional, and van Pampus, Maria G., additional

Published
2024
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19. LEF1 isoforms regulate cellular senescence and aging

Author

Jia, Minxue, primary, Sayed, Khaled, additional, Kapetanaki, Maria G., additional, Dion, William, additional, Rosas, Lorena, additional, Irfan, Saad, additional, Valenzi, Eleanor, additional, Mora, Ana L., additional, Lafyatis, Robert A., additional, Rojas, Mauricio, additional, Zhu, Bokai, additional, and Benos, Panayiotis V., additional

Published
2023
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21. A community effort in SARS‐CoV‐2 drug discovery

Author

Schimunek, Johannes, primary, Seidl, Philipp, additional, Elez, Katarina, additional, Hempel, Tim, additional, Le, Tuan, additional, Noé, Frank, additional, Olsson, Simon, additional, Raich, Lluís, additional, Winter, Robin, additional, Gokcan, Hatice, additional, Gusev, Filipp, additional, Gutkin, Evgeny M., additional, Isayev, Olexandr, additional, Kurnikova, Maria G., additional, Narangoda, Chamali H., additional, Zubatyuk, Roman, additional, Bosko, Ivan P., additional, Furs, Konstantin V., additional, Karpenko, Anna D., additional, Kornoushenko, Yury V., additional, Shuldau, Mikita, additional, Yushkevich, Artsemi, additional, Benabderrahmane, Mohammed, additional, Bousquet-Melou, Patrick, additional, Bureau, Ronan, additional, Charton, Beatrice, additional, Cirou, Bertrand, additional, Gil, Gérard, additional, Allen, William J., additional, Sirimulla, Suman, additional, Watowich, Stanley, additional, Antonopoulos, Nick, additional, Epitropakis, Nikolaos, additional, Krasoulis, Agamemnon, additional, Pitsikalis, Vassilis, additional, Theodorakis, Stavros, additional, Kozlovskii, Igor, additional, Maliutin, Anton, additional, Medvedev, Alexander, additional, Popov, Petr, additional, Zaretckii, Mark, additional, Eghbal-zadeh, Hamid, additional, Halmich, Christina, additional, Hochreiter, Sepp, additional, Mayr, Andreas, additional, Ruch, Peter, additional, Widrich, Michael, additional, Berenger, Francois, additional, Kumar, Ashutosh, additional, Yamanishi, Yoshihiro, additional, Zhang, Kam, additional, Bengio, Emmanuel, additional, Bengio, Yoshua, additional, Jain, Moksh, additional, Korablyov, Maksym, additional, Liu, Cheng-Hao, additional, Gilles, Marcous, additional, Glaab, Enrico, additional, Barnsley, Kelly, additional, Iyengar, Suhasini M., additional, Ondrechen, Mary Jo, additional, Haupt, V. Joachim, additional, Kaiser, Florian, additional, Schroeder, Michael, additional, Pugliese, Luisa, additional, Albani, Simone, additional, Athanasiou, Christina, additional, Beccari, Andrea, additional, Carloni, Paolo, additional, D'Arrigo, Giulia, additional, Gianquinto, Eleonora, additional, Goßen, Jonas, additional, Hanke, Anton, additional, Joseph, Benjamin P., additional, Kokh, Daria B., additional, Kovachka, Sandra, additional, Manelfi, Candida, additional, Mukherjee, Goutam, additional, Muñiz-Chicharro, Abraham, additional, Musiani, Francesco, additional, Nunes-Alves, Ariane, additional, Paiardi, Giulia, additional, Rossetti, Giulia, additional, Sadiq, S. Kashif, additional, Spyrakis, Francesca, additional, Talarico, Carmine, additional, Tsengenes, Alexandros, additional, Wade, Rebecca, additional, Copeland, Conner, additional, Gaiser, Jeremiah, additional, Olson, Daniel R., additional, Roy, Amitava, additional, Venkatraman, Vishwesh, additional, Wheeler, Travis J., additional, Arthanari, Haribabu, additional, Blaschitz, Klara, additional, Cespugli, Marco, additional, Durmaz, Vedat, additional, Fackeldey, Konstantin, additional, Fischer, Patrick D., additional, Gorgulla, Christoph, additional, Gruber, Christian, additional, Gruber, Karl, additional, Hetmann, Michael, additional, Kinney, Jamie E., additional, Das, Krishna M. Padmanabha, additional, Pandita, Shreya, additional, Singh, Amit, additional, Steinkellner, Georg, additional, Tesseyre, Guilhem, additional, Wagner, Gerhard, additional, Wang, Zi-Fu, additional, Yust, Ryan J., additional, Druzhilovskiy, Dmitry S., additional, Filimonov, Dmitry, additional, Pogodin, Pavel V., additional, Poroikov, Vladimir, additional, Rudik, Anastassia V., additional, Stolbov, Leonid A., additional, Veselovsky, Alexander V., additional, De Rosa, Maria, additional, Simone, Giada De, additional, Gulotta, Maria R., additional, Lombino, Jessica, additional, Mekni, Nedra, additional, Perricone, Ugo, additional, Casini, Arturo, additional, Embree, Amanda, additional, Gordon, D. Benjamin, additional, Lei, David, additional, Pratt, Katelin, additional, Voigt, Christopher A., additional, Chen, Kuang-Yu, additional, Jacob, Yves, additional, Krischuns, Tim, additional, Lafaye, Pierre, additional, Zettor, Agnès, additional, Rodríguez, M. Luis, additional, White, Kris M., additional, Fearon, Daren, additional, von Delft, Frank, additional, Walsh, Martin A., additional, Horvath, Dragos, additional, Brooks, Charles L., additional, Falsafi, Babak, additional, Ford, Bryan, additional, García-Sastre, Adolfo, additional, Lee, Sang Yup, additional, Naffakh, Nadia, additional, Varnek, Alexandre, additional, Klambauer, Guenter, additional, and Hermans, Thomas M., additional

Published
2023
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25. Blood–Brain Barrier Remodeling in an Organ‐on‐a‐Chip Device Showing Dkk1 to be a Regulator of Early Metastasis

Author

Westerhof, Trisha M., primary, Yang, Benjamin A., additional, Merrill, Nathan M., additional, Yates, Joel A., additional, Altemus, Megan, additional, Russell, Liam, additional, Miller, Anna J., additional, Bao, Liwei, additional, Wu, Zhifen, additional, Ulintz, Peter J., additional, Aguilar, Carlos A., additional, Morikawa, Aki, additional, Castro, Maria G., additional, Merajver, Sofia D., additional, and Oliver, Christopher R., additional

Published
2023
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26. Expanding the reproductive organ phenotype of CHD7 ‐spectrum disorder

Author

Tomoki T. Nomakuchi, Melinda Danowitz, Blythe Stewart, Jacqueline Leonard, Kosuke Izumi, Ian Krantz, Thomas F. Kolon, David Langdon, Cara Skraban, Jason Van Batavia, Elaine Zackai, Kai Jiao, Rebecca Linn, Caitlin Alexander, Mark Zaontz, Maria G. Vogiatzi, and Louise C. Pyle

Subjects
Genetics, Genetics (clinical)
Published
2023

27. Percentage of change and increment of the glucose level after a normal oral tolerance curve between 24 and 28 weeks of pregnancy

Author

Ana B. Zavalza‐Gómez, Sandra C. Pérez‐Hernández, Aldo G. Arrazola‐Fregozo, María C. Espinel‐Bermúdez, Fernando Grover‐Páez, Sara Pascoe González, Maria G. Ramos‐Zavala, Ernesto G. Cardona‐Muñoz, David Cardona‐Müller, and Sandra O. Hernández‐González

Subjects
Obstetrics and Gynecology
Abstract

To determine the percentage of change and increment in glucose levels after a normal oral glucose tolerance test between 24 and 28 weeks of pregnancy.We studied 3510 pregnant women who attended their obstetric delivery at a tertiary care hospital in Guadalajara, Mexico in 2018, according to characteristics and risk 1647 (47%) patients were screened for diabetes diagnosis using the oral glucose tolerance test, 501 patients reported normal values between their 24th and 28th week of pregnancy, only 400 patients had their fasting glucose level measured on the same day of their obstetric delivery, to be compared.Average age was 30 years, with an average of 25.3 weeks of pregnancy. The fasting serum glucose levels taken after 28 weeks of pregnancy and before the obstetrical delivery showed an increase of 1.1 mmol/L in women who develop gestational diabetes mellitus, in contrast to women who did not develop gestational diabetes mellitus after 28 weeks their blood glucose only increased on average 0.4 mmol/L. The incidence of gestational diabetes mellitus in the study population during 2018 was 32.7%. Patients who developed gestational diabetes mellitus after a normal oral glucose tolerance test had greater body mass index before the pregnancy and newborns had a higher weight than babies born to mothers without gestational diabetes mellitus.Changes in glucose levels after the oral tolerance test of normal glucose require strict monitoring, in that it was demonstrated that 3% of patients developed gestational diabetes mellitus after week 28 of gestation.

Published
2022

28. <scp>IAPT</scp> chromosome data 38

Author

Karol Marhold, Jaromír Kučera, Tatiana G. Aleksandrova, Tatiana V. Alexeeva, Elena A. Andriyanova, Evgeny V. Banaev, Alexander A. Bobrov, Eugeny V. Boltenkov, Evgeniy A. Bondarevich, Irina G. Boyarskikh, Olga A. Chernyagina, Daba G. Chimitov, Tatyana V. Dyubenko, Elena A. Dzyubenko, Aleksandr L. Ebel, Andrey S. Erst, Anna A. Erst, Anahit G. Ghukasyan, Maria G. Khoreva, Mikhail S. Knyazev, Violetta V. Kotseruba, Denis A. Krivenko, Polina A. Kuzmina, Eduard M. Machs, Natalia Yu. Malysheva, Elizaveta Yu. Mitrenina, Olga A. Mochalova, Yulia A. Myakoshina, Anush A. Nersesyan, Tatiana A. Ostroumova, Tatyana V. Pankova, Galina I. Pendinen, Michail G. Pimenov, Tatiana A. Poliakova, Nina S. Probatova, Yuliya A. Pshenichkina, Alexander V. Rodionov, Anna V. Shatokhina, Dmitry N. Shaulo, Julia V. Shner, Mariya A. Tomoshevich, Vasily S. Vishnyakov, Wei Wang, and Elena Yu. Zykova

Subjects
Plant Science, Ecology, Evolution, Behavior and Systematics
Published
2022

29. Microbial Functional Foods and Nutraceuticals

Author

Vijai Kumar Gupta, Helen Treichel, Volha (Olga) Shapaval, Luiz Antonio de Oliveira, Maria G. Tuohy, Vijai Kumar Gupta, Helen Treichel, Volha (Olga) Shapaval, Luiz Antonio de Oliveira, Maria G. Tuohy and Vijai Kumar Gupta, Helen Treichel, Volha (Olga) Shapaval, Luiz Antonio de Oliveira, Maria G. Tuohy, Vijai Kumar Gupta, Helen Treichel, Volha (Olga) Shapaval, Luiz Antonio de Oliveira, Maria G. Tuohy

Published
2017

32. Prevalence, clinical characteristics and outcomes of heart failure patients with or without isolated or combined mitral and tricuspid regurgitation: An analysis from the ESC‐HFA Heart Failure Long‐Term Registry

Author

Adamo, Marianna, primary, Chioncel, Ovidiu, additional, Benson, Lina, additional, Shahim, Bahira, additional, Crespo‐Leiro, Maria G., additional, Anker, Stefan D., additional, Coats, Andrew J.S., additional, Filippatos, Gerasimos, additional, Lainscak, Mitja, additional, McDonagh, Theresa, additional, Mebazaa, Alexander, additional, Piepoli, Massimo F., additional, Rosano, Giuseppe M.C., additional, Ruschitzka, Frank, additional, Savarese, Gianluigi, additional, Seferovic, Petar, additional, Shahim, Angiza, additional, Popescu, Bogdan A., additional, Iung, Bernard, additional, Volterrani, Maurizio, additional, Maggioni, Aldo P., additional, Metra, Marco, additional, and Lund, Lars H., additional

Published
2023
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33. Prevalence, Characteristics and Prognostic Impact of Aortic Valve Disease in Patients with Heart Failure and Reduced, Mildly Reduced, and Preserved Ejection Fraction: An Analysis of the ESC Heart Failure Long‐Term Registry

Author

Shahim, Bahira, primary, Shahim, Angiza, additional, Adamo, Marianna, additional, Chioncel, Ovidiu, additional, Benson, Lina, additional, Shahim, Bahira, additional, Crespo‐Leiro, Maria G., additional, Anker, Stefan D., additional, Coats, Andrew J.S., additional, Filippatos, Gerasimos, additional, Lainscak, Mitja, additional, McDonagh, Theresa, additional, Mebazaa, Alexandre, additional, Piepoli, Massimo F., additional, Rosano, Giuseppe M.C., additional, Ruschitzka, Frank, additional, Savarese, Gianluigi, additional, Seferovic, Petar, additional, Volterrani, Maurizio, additional, Leiro, Marisa Crespo, additional, Cubero, Javier Segovia, additional, Amir, Offer, additional, Palic, Benjamin, additional, Maggioni, Aldo P., additional, Metra, Marco, additional, and Lund, Lars H., additional

Published
2023
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35. Evenness mediates the global relationship between forest productivity and richness

Author

Hordijk, Iris, primary, Maynard, Daniel S., additional, Hart, Simon P., additional, Lidong, Mo, additional, ter Steege, Hans, additional, Liang, Jingjing, additional, de‐Miguel, Sergio, additional, Nabuurs, Gert‐Jan, additional, Reich, Peter B., additional, Abegg, Meinrad, additional, Adou Yao, C. Yves, additional, Alberti, Giorgio, additional, Almeyda Zambrano, Angelica M., additional, Alvarado, Braulio V., additional, Esteban, Alvarez‐Davila, additional, Alvarez‐Loayza, Patricia, additional, Alves, Luciana F., additional, Ammer, Christian, additional, Antón‐Fernández, Clara, additional, Araujo‐Murakami, Alejandro, additional, Arroyo, Luzmila, additional, Avitabile, Valerio, additional, Aymard C, Gerardo A., additional, Baker, Timothy, additional, Bałazy, Radomir, additional, Banki, Olaf, additional, Barroso, Jorcely, additional, Bastian, Meredith L., additional, Bastin, Jean‐Francois, additional, Birigazzi, Luca, additional, Birnbaum, Philippe, additional, Bitariho, Robert, additional, Boeckx, Pascal, additional, Bongers, Frans, additional, Bouriaud, Olivier, additional, Brancalion, Pedro H. S., additional, Brandl, Susanne, additional, Brienen, Roel, additional, Broadbent, Eben N., additional, Bruelheide, Helge, additional, Bussotti, Filippo, additional, Cazzolla Gatti, Roberto, additional, César, Ricardo G., additional, Cesljar, Goran, additional, Chazdon, Robin, additional, Chen, Han Y. H., additional, Chisholm, Chelsea, additional, Cienciala, Emil, additional, Clark, Connie J., additional, Clark, David B., additional, Colletta, Gabriel, additional, Coomes, David, additional, Cornejo Valverde, Fernando, additional, Corral‐Rivas, Jose J., additional, Crim, Philip, additional, Cumming, Jonathan, additional, Dayanandan, Selvadurai, additional, de Gasper, André L., additional, Decuyper, Mathieu, additional, Derroire, Géraldine, additional, DeVries, Ben, additional, Djordjevic, Ilija, additional, Iêda, Amaral, additional, Dourdain, Aurélie, additional, Nestor Laurier, Engone Obiang, additional, Enquist, Brian, additional, Eyre, Teresa, additional, Fandohan, Adandé Belarmain, additional, Fayle, Tom M., additional, Ferreira, Leandro V., additional, Feldpausch, Ted R., additional, Finér, Leena, additional, Fischer, Markus, additional, Fletcher, Christine, additional, Frizzera, Lorenzo, additional, Gamarra, Javier G. P., additional, Gianelle, Damiano, additional, Glick, Henry B., additional, Harris, David, additional, Hector, Andrew, additional, Hemp, Andreas, additional, Hengeveld, Geerten, additional, Hérault, Bruno, additional, Herbohn, John, additional, Hillers, Annika, additional, Honorio Coronado, Eurídice N., additional, Hui, Cang, additional, Cho, Hyunkook, additional, Ibanez, Thomas, additional, Bin Jung, Il, additional, Imai, Nobuo, additional, Jagodzinski, Andrzej M., additional, Jaroszewicz, Bogdan, additional, Johanssen, Vivian, additional, Joly, Carlos A., additional, Jucker, Tommaso, additional, Karminov, Viktor, additional, Kartawinata, Kuswata, additional, Kearsley, Elizabeth, additional, Kenfack, David, additional, Kennard, Deborah, additional, Kepfer‐Rojas, Sebastian, additional, Keppel, Gunnar, additional, Khan, Mohammed Latif, additional, Killeen, Timothy, additional, Kim, Hyun Seok, additional, Kitayama, Kanehiro, additional, Köhl, Michael, additional, Korjus, Henn, additional, Kraxner, Florian, additional, Laarmann, Diana, additional, Lang, Mait, additional, Lewis, Simon, additional, Lu, Huicui, additional, Lukina, Natalia, additional, Maitner, Brian, additional, Malhi, Yadvinder, additional, Marcon, Eric, additional, Marimon, Beatriz Schwantes, additional, Marimon‐Junior, Ben Hur, additional, Marshall, Andrew Robert, additional, Martin, Emanuel, additional, Martynenko, Olga, additional, Meave, Jorge A., additional, Melo‐Cruz, Omar, additional, Mendoza, Casimiro, additional, Merow, Cory, additional, Miscicki, Stanislaw, additional, Mendoza, Abel Monteagudo, additional, Moreno, Vanessa, additional, Mukul, Sharif A., additional, Mundhenk, Philip, additional, Nava‐Miranda, Maria G., additional, Neill, David, additional, Neldner, Victor, additional, Nevenic, Radovan, additional, Ngugi, Michael, additional, Niklaus, Pascal A., additional, Oleksyn, Jacek, additional, Ontikov, Petr, additional, Ortiz‐Malavasi, Edgar, additional, Pan, Yude, additional, Paquette, Alain, additional, Parada‐Gutierrez, Alexander, additional, Parfenova, Elena, additional, Park, Minjee, additional, Parren, Marc, additional, Parthasarathy, Narayanaswamy, additional, Peri, Pablo L., additional, Pfautsch, Sebastian, additional, Phillips, Oliver L., additional, Picard, Nicolas, additional, Piedade, Maria Teresa, additional, Piotto, Daniel, additional, Pitman, Nigel C. A., additional, Polo, Irina, additional, Poorter, Lourens, additional, Poulsen, Axel Dalberg, additional, Poulsen, John R., additional, Pretzsch, Hans, additional, Ramirez Arevalo, Freddy, additional, Restrepo‐Correa, Zorayda, additional, Rodeghiero, Mirco, additional, Rolim, Samir, additional, Roopsind, Anand, additional, Rovero, Francesco, additional, Rutishauser, Ervan, additional, Saikia, Purabi, additional, Salas‐Eljatib, Christian, additional, Schall, Peter, additional, Schepaschenko, Dmitry, additional, Scherer‐Lorenzen, Michael, additional, Schmid, Bernhard, additional, Schöngart, Jochen, additional, Searle, Eric B., additional, Šebeň, Vladimír, additional, Serra‐Diaz, Josep M., additional, Sheil, Douglas, additional, Shvidenko, Anatoly, additional, Silva‐Espejo, Javier, additional, Silveira, Marcos, additional, Singh, James, additional, Sist, Plinio, additional, Slik, Ferry, additional, Sonké, Bonaventure, additional, Souza, Alexandre F., additional, Stereńczak, Krzysztof, additional, Svenning, Jens‐Christian, additional, Svoboda, Miroslav, additional, Swanepoel, Ben, additional, Targhetta, Natalia, additional, Tchebakova, Nadja, additional, Thomas, Raquel, additional, Tikhonova, Elena, additional, Umunay, Peter, additional, Usoltsev, Vladimir, additional, Valencia, Renato, additional, Valladares, Fernando, additional, van der Plas, Fons, additional, Tran, Do Van, additional, Van Nuland, Michael E., additional, Vasquez Martinez, Rodolfo, additional, Verbeeck, Hans, additional, Viana, Helder, additional, Vibrans, Alexander C., additional, Vieira, Simone, additional, von Gadow, Klaus, additional, Wang, Hua‐Feng, additional, Watson, James, additional, Werner, Gijsbert D. A., additional, Wiser, Susan K., additional, Wittmann, Florian, additional, Wortel, Verginia, additional, Zagt, Roderick, additional, Zawila‐Niedzwiecki, Tomasz, additional, Zhang, Chunyu, additional, Zhao, Xiuhai, additional, Zhou, Mo, additional, Zhu, Zhi‐Xin, additional, Zo‐Bi, Irie Casimir, additional, and Crowther, Thomas W., additional

Published
2023
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36. Commentary on 'The road to reliable peptide assays is paved with good guidelines'

Author

Anna M. Kowalka, Kleopatra Alexiadou, Joyceline Cuenco, Rosemary E. Clarke, Stephane Camuzeaux, James Minnion, Emma L. Williams, Paul Bech, Sanjay Purkayastha, Ahmed R. Ahmed, Zoltan Takats, Bernard Khoo, Harry J. Whitwell, Maria G. Romero, Stephen R. Bloom, Matthew R. Lewis, and Tricia M.‐M. Tan

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism
Published
2023

37. Design of new hydrolyzed collagen‐modified magnetic nanoparticles to capture pathogens

Author

Maria G. Sande, Lúcia Roque, Adelaide Braga, Márcia Marques, Débora Ferreira, Athanasios Saragliadis, Joana L. Rodrigues, Dirk Linke, David Ramada, Carla Silva, and Lígia R. Rodrigues

Subjects
Biomaterials, Biomedical Engineering
Abstract

Enrichment and diagnosis tools for pathogens currently available are time consuming, thus the development of fast and highly sensitive alternatives is desirable. In this study, a novel approach was described that enables selective capture of bacteria expressing hydrolyzed collagen-binding adhesins with hydrolyzed collagen-coated magnetic nanoparticles (MNPs). This platform could be useful to shorten the time needed to confirm the presence of a bacterial infection. MNPs were synthesized by a simple two-step approach through a green co-precipitation method using water as solvent. These MNPs were specifically designed to interact with pathogenic bacteria by establishing a hydrolyzed collagen-adhesin linker. The bacterial capture efficacy of hydrolyzed collagen MNPs (H-Coll@MNPs) for bacteria expressing collagen binding adhesins was 1.3 times higher than that of arginine MNPs (Arg@MNPs), herein used as control. More importantly, after optimization of the MNP concentration and contact time, the H-Coll@MNPs were able to capture 95% of bacteria present in the samples. More importantly, the bacteria can be enriched within 30 min and the time for bacterial identification is effectively shortened in comparison to the "gold standard" in clinical diagnosis. These results suggest that H-Coll@MNPs can be used for the selective isolation of specific bacteria from mixed populations present, for example, in biological samples.

Published
2022

38. The Atlas of Morocco: A Plume-Assisted Orogeny

Author

Lanari, Riccardo, Faccenna, Claudio, Natali, Claudio, Şengül Uluocak, Ebru, Fellin, Maria G., Becker, Thorsten W., Göğüş, Oğuz H., Youbi, N., Clementucci, Romano, and Conticelli, Sandro

Abstract

We explore the connections between crustal shortening, volcanism, and mantle dynamics in the Atlas of Morocco. In response to compressional forces and strain localization, this intraplate orogen has evolved far from convergent plate margins. Convective effects, such as lithospheric weakening and plume-related volcanism, contributed in important ways to the building of high topography. We seek to better understand how crustal and mantle processes interacted during the Atlas' orogeny by combining multiple strands of observations, including new and published data. Constraints on crustal and thermal evolution are combined with new analyses of topographic evolution, petrological, and geochemical data from the Anti-Atlas volcanic fields, and a simple numerical model of the interactions among crustal deformation, a mantle plume, and volcanism. Our findings substantiate that: (a) crustal deformation and exhumation accelerated during the middle/late Miocene, contemporaneous with the onset of volcanism; (b) volcanism has an anorogenic signature with a deep source; (c) a dynamic mantle upwelling supports the high topography. We propose that a mantle plume and the related volcanism weakened the lithosphere beneath the Atlas and that this favored the localization of crustal shortening along pre-existing structures during plate convergence. This convective-tectonic sequence may represent a general mechanism for the modification of continental plates throughout the thermo-chemical evolution of the supercontinental cycle., Geochemistry, Geophysics, Geosystems, 24 (6), ISSN:1525-2027

Published
2023

40. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure

Author

Theresa A, McDonagh, Marco, Metra, Marianna, Adamo, Roy S, Gardner, Andreas, Baumbach, Michael, Böhm, Haran, Burri, Javed, Butler, Jelena, Čelutkienė, Ovidiu, Chioncel, John G F, Cleland, Andrew J S, Coats, Maria G, Crespo-Leiro, Dimitrios, Farmakis, Martine, Gilard, Stephane, Heymans, Arno W, Hoes, Tiny, Jaarsma, Ewa A, Jankowska, Mitja, Lainscak, Carolyn S P, Lam, Alexander R, Lyon, John J V, McMurray, Alexandre, Mebazaa, Richard, Mindham, Claudio, Muneretto, Massimo, Francesco Piepoli, Susanna, Price, Giuseppe M C, Rosano, Frank, Ruschitzka, Anne, Kathrine Skibelund, Johannes, Waltenberger, Mcdonagh, Theresa A, Metra, Marco, Adamo, Marianna, Gardner, Roy S, Baumbach, Andrea, Böhm, Michael, Burri, Haran, Butler, Javed, Čelutkienė, Jelena, Chioncel, Ovidiu, Cleland, John G F, Coats, Andrew J S, Crespo-Leiro, Maria G, Farmakis, Dimitrio, Gilard, Martine, Heymans, Stephane, Hoes, Arno W, Jaarsma, Tiny, Jankowska, Ewa A, Lainscak, Mitja, Lam, Carolyn S P, Lyon, Alexander R, Mcmurray, John J V, Mebazaa, Alexandre, Mindham, Richard, Muneretto, Claudio, Francesco Piepoli, Massimo, Price, Susanna, Rosano, Giuseppe M C, Ruschitzka, Frank, Kathrine Skibelund, Anne, University of Zurich, Cardiology, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: Carim - H02 Cardiomyopathy, and McDonagh, Theresa A

Subjects
diagnosis, cardiac resynchronization therapy, heart failure, 2700 General Medicine, Guideline, Cardiovascular System, neuro-hormonal antagonist, pharmacotherapy, VENTRICULAR ASSIST DEVICE, QUALITY-OF-LIFE, Germany, multidisciplinary management, neuro, ejection fraction, CARDIAC-RESYNCHRONIZATION THERAPY, General Medicine, Guidelines, acute heart failure, advanced heart failure, arrhythmias, comorbidities, hospitalization, mechanical circulatory support, natriuretic peptides, neuro-hormonal antagonists, transplantation, Bayes Theorem, Chronic Disease, Europe, France, Humans, Italy, United Kingdom, United States, Cardiology, Heart Failure, diagnosi, PRESERVED EJECTION FRACTION, BRAIN NATRIURETIC PEPTIDE, 10209 Clinic for Cardiology, CORONARY-ARTERY-DISEASE, Cardiology and Cardiovascular Medicine, ACUTE MYOCARDIAL-INFARCTION, comorbiditie, IMPLANTABLE CARDIOVERTER-DEFIBRILLATOR, 610 Medicine & health, arrhythmia, 2705 Cardiology and Cardiovascular Medicine, natriuretic peptide, WORSENING RENAL-FUNCTION, hormonal antagonists, AORTIC-VALVE-REPLACEMENT
Abstract

Document Reviewers: Rudolf A. de Boer (CPG Review Coordinator) (Netherlands), P. Christian Schulze (CPG Review Coordinator) (Germany), Magdy Abdelhamid (Egypt), Victor Aboyans (France), Stamatis Adamopoulos (Greece), Stefan D. Anker (Germany), Elena Arbelo (Spain), Riccardo Asteggiano (Italy), Johann Bauersachs (Germany), Antoni Bayes-Genis (Spain), Michael A. Borger (Germany), Werner Budts (Belgium), Maja Cikes (Croatia), Kevin Damman (Netherlands), Victoria Delgado (Netherlands), Paul Dendale (Belgium), Polychronis Dilaveris (Greece), Heinz Drexel (Austria), Justin Ezekowitz (Canada), Volkmar Falk (Germany), Laurent Fauchier (France), Gerasimos Filippatos (Greece), Alan Fraser (United Kingdom), Norbert Frey (Germany), Chris P. Gale (United Kingdom), Finn Gustafsson (Denmark), Julie Harris (United Kingdom), Bernard Iung (France), Stefan Janssens (Belgium), Mariell Jessup (United States of America), Aleksandra Konradi (Russia), Dipak Kotecha (United Kingdom), Ekaterini Lambrinou (Cyprus), Patrizio Lancellotti (Belgium), Ulf Landmesser (Germany), Christophe Leclercq (France), Basil S. Lewis (Israel), Francisco Leyva (United Kingdom), AleVs Linhart (Czech Republic), Maja-Lisa Løchen (Norway), Lars H. Lund (Sweden), Donna Mancini (United States of America), Josep Masip (Spain), Davor Milicic (Croatia), Christian Mueller (Switzerland), Holger Nef (Germany), Jens-Cosedis Nielsen (Denmark), Lis Neubeck (United Kingdom), Michel Noutsias (Germany), Steffen E. Petersen (United Kingdom), Anna Sonia Petronio (Italy), Piotr Ponikowski (Poland), Eva Prescott (Denmark), Amina Rakisheva (Kazakhstan), Dimitrios J. Richter (Greece), Evgeny Schlyakhto (Russia), Petar Seferovic (Serbia), Michele Senni (Italy), Marta Sitges (Spain), Miguel Sousa-Uva (Portugal), Carlo G. Tocchetti (Italy), Rhian M. Touyz (United Kingdom), Carsten Tschoepe (Germany), Johannes Waltenberger (Germany/Switzerland) All experts involved in the development of these guidelines have submitted declarations of interest. These have been compiled in a report and published in a supplementary document simultaneously to the guidelines. The report is also available on the ESC website www.escardio.org/guidelines For the Supplementary Data which include background information and detailed discussion of the data that have provided the basis for the guidelines see European Heart Journal online.

Published
2022

41. Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( <scp>CDH</scp> +) using <scp>DECIPHER</scp> data

Author

Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, and Daryl A. Scott

Subjects
DNA Copy Number Variations, Diaphragm, USP9X, CREBBP, DECIPHER database, SMARCA4, UBA2, congenital diaphragmatic hernia, Mice, Genetics, Animals, Hernias, Diaphragmatic, Congenital, Genetics (clinical)
Abstract

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we used clinical and molecular data from 36 individuals with CDH+ who are cataloged in the DECIPHER database to identify genes that may play a role in diaphragm development and to discover new phenotypic expansions. Among this group, we identified individuals who carried putatively deleterious sequence or copy number variants affecting CREBBP, SMARCA4, UBA2, and USP9X. The role of these genes in diaphragm development was supported by their expression in the developing mouse diaphragm, their similarity to known CDH genes using data from a previously published and validated machine learning algorithm, and/or the presence of CDH in other individuals with their associated genetic disorders. Our results demonstrate how data from DECIPHER, and other public databases, can be used to identify new phenotypic expansions and suggest that CREBBP, SMARCA4, UBA2, and USP9X play a role in diaphragm development.

Published
2022

42. Commentary on “The road to reliable peptide assays is paved with good guidelines”

Author

Kowalka, Anna M., primary, Alexiadou, Kleopatra, additional, Cuenco, Joyceline, additional, Clarke, Rosemary E., additional, Camuzeaux, Stephane, additional, Minnion, James, additional, Williams, Emma L., additional, Bech, Paul, additional, Purkayastha, Sanjay, additional, Ahmed, Ahmed R., additional, Takats, Zoltan, additional, Khoo, Bernard, additional, Whitwell, Harry J., additional, Romero, Maria G., additional, Bloom, Stephen R., additional, Lewis, Matthew R., additional, and Tan, Tricia M.‐M., additional

Published
2023
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43. Inotropic therapy in patients with advanced heart failure. A clinical consensus statement from the Heart Failure Association of the European Society of Cardiology

Author

Gustafsson, Finn, primary, Damman, Kevin, additional, Nalbantgil, Sanem, additional, Van Laake, Linda W., additional, Tops, Laurens F., additional, Thum, Thomas, additional, Adamopoulos, Stamatis, additional, Bonios, Michael, additional, Coats, Andrew JS, additional, Crespo‐Leiro, Maria G., additional, Mehra, Mandeep R., additional, Filippatos, Gerasimos, additional, Hill, Loreena, additional, Metra, Marco, additional, Jankowska, Ewa, additional, de Jonge, Nicolaas, additional, Kaye, David, additional, Masetti, Marco, additional, Parissis, John, additional, Milicic, Davor, additional, Seferovic, Petar, additional, Rosano, Giuseppe, additional, and Ben Gal, Tuvia, additional

Published
2023
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44. Association of osteocalcin, osteoprotegerin and osteopontin with cardiovascular disease and retinopathy in type 2 diabetes

Author

Maddaloni, Ernesto, primary, Coraggio, Lucia, additional, Amendolara, Rocco, additional, Baroni, Marco G., additional, Cavallo, Maria G., additional, Copetti, Massimiliano, additional, Cossu, Efisio, additional, D’Angelo, Paola, additional, D’Onofrio, Luca, additional, Cosmo, Salvatore De, additional, Leonetti, Frida, additional, Morano, Susanna, additional, Morviducci, Lelio, additional, Napoli, Nicola, additional, Prudente, Sabrina, additional, Pugliese, Giuseppe, additional, Park, Kyoungmin, additional, Holman, Rury R., additional, Trischitta, Vincenzo, additional, and Buzzetti, Raffaella, additional

Published
2023
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46. Expanding the reproductive organ phenotype of CHD7 ‐spectrum disorder

Author

Nomakuchi, Tomoki T., primary, Danowitz, Melinda, additional, Stewart, Blythe, additional, Leonard, Jacqueline, additional, Izumi, Kosuke, additional, Krantz, Ian, additional, Kolon, Thomas F., additional, Langdon, David, additional, Skraban, Cara, additional, Van Batavia, Jason, additional, Zackai, Elaine, additional, Jiao, Kai, additional, Linn, Rebecca, additional, Alexander, Caitlin, additional, Zaontz, Mark, additional, Vogiatzi, Maria G., additional, and Pyle, Louise C., additional

Published
2023
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48. Development and Validation of Automated <scp>Magnetic Resonance</scp> Parkinsonism Index 2.0 to Distinguish <scp>Progressive Supranuclear Palsy‐Parkinsonism</scp> From <scp>Parkinson's Disease</scp>

Author

Andrea Quattrone, Maria G. Bianco, Angelo Antonini, David E. Vaillancourt, Klaus Seppi, Roberto Ceravolo, Antonio P. Strafella, Gioacchino Tedeschi, Alessandro Tessitore, Roberto Cilia, Maurizio Morelli, Salvatore Nigro, Basilio Vescio, Pier Paolo Arcuri, Rosa De Micco, Mario Cirillo, Luca Weis, Eleonora Fiorenzato, Roberta Biundo, Roxana G. Burciu, Florian Krismer, Nikolaus R. McFarland, Christoph Mueller, Elke R. Gizewski, Mirco Cosottini, Eleonora Del Prete, Sonia Mazzucchi, Aldo Quattrone, Quattrone, A., Bianco, M. G., Antonini, A., Vaillancourt, D. E., Seppi, K., Ceravolo, R., Strafella, A. P., Tedeschi, G., Tessitore, A., Cilia, R., Morelli, M., Nigro, S., Vescio, B., Arcuri, P. P., De Micco, R., Cirillo, M., Weis, L., Fiorenzato, E., Biundo, R., Burciu, R. G., Krismer, F., Mcfarland, N. R., Mueller, C., Gizewski, E. R., Cosottini, M., Del Prete, E., and Mazzucchi, S.

Subjects
Magnetic Resonance Spectroscopy, Parkinson's disease, Magnetic Resonance Parkinsonism Index 2.0, Parkinson Disease, automated MRI biomarker, progressive supranuclear palsy-parkinsonism, Magnetic Resonance Imaging, eye diseases, Diagnosis, Differential, Parkinsonian Disorders, Neurology, Humans, Paralysis, Supranuclear Palsy, Progressive, Neurology (clinical)
Abstract

Background: Differentiating progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) is clinically challenging. Objective: This study aimed to develop an automated Magnetic Resonance Parkinsonism Index 2.0 (MRPI 2.0) algorithm to distinguish PSP-P from PD and to validate its diagnostic performance in two large independent cohorts. Methods: We enrolled 676 participants: a training cohort (n=346; 43 PSP-P, 194 PD, and 109 control subjects) from our center and an independent testing cohort (n=330; 62 PSP-P, 171 PD, and 97 control subjects) from an international research group. We developed a new in-house algorithm for MRPI 2.0 calculation and assessed its performance in distinguishing PSP-P from PD and control subjects in both cohorts using receiver operating characteristic curves. Results: The automated MRPI 2.0 showed excellent performance in differentiating patients with PSP-P from patients with PD and control subjects both in the training cohort (area under the receiver operating characteristic curve [AUC]=0.93 [95% confidence interval, 0.89–0.98] and AUC=0.97 [0.93–1.00], respectively) and in the international testing cohort (PSP-P versus PD, AUC=0.92 [0.87–0.97]; PSP-P versus controls, AUC=0.94 [0.90–0.98]), suggesting the generalizability of the results. The automated MRPI 2.0 also accurately distinguished between PSP-P and PD in the early stage of the diseases (AUC=0.91 [0.84–0.97]). A strong correlation (r=0.91, P < 0.001) was found between automated and manual MRPI 2.0 values. Conclusions: Our study provides an automated, validated, and generalizable magnetic resonance biomarker to distinguish PSP-P from PD. The use of the automated MRPI 2.0 algorithm rather than manual measurements could be important to standardize measures in patients with PSP-P across centers, with a positive impact on multicenter studies and clinical trials involving patients from different geographic regions. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

49. Biotechnology of Bioactive Compounds: Sources and Applications

Author

Vijai Kumar Gupta, Maria G. Tuohy, Anthonia O'Donovan, Mohtashim Lohani, Vijai Kumar Gupta, Maria G. Tuohy, Anthonia O'Donovan, Mohtashim Lohani and Vijai Kumar Gupta, Maria G. Tuohy, Anthonia O'Donovan, Mohtashim Lohani, Vijai Kumar Gupta, Maria G. Tuohy, Anthonia O'Donovan, Mohtashim Lohani

Published
2015

50. Characteristics of Patients With Antiphospholipid Antibody Positivity in the <scp>APS ACTION</scp> International Clinical Database and Repository

Author

Jason S. Knight, Medha Barbhaiya, Hannah Cohen, Michelle Petri, Robert Roubey, Maria Efthymiou, Rohan Willis, Doruk Erkan, Vittorio Pengo, Esther Rodriguez, Amaia Ugarte, Ecem Sevim, Maria Laura Bertolaccini, Paul R. Fortin, H. Michael Belmont, Ricard Cervera, Diane Zisa, Lanlan Ji, Tatsuya Atsumi, Maria Gerosa, D. Ware Branch, Savino Sciascia, Aps Action Investigators, Guilherme Ramires de Jesus, Maria Angeles Aguirre Zamorano, Laura Andreoli, Maria G Tektonidou, and Danieli Andrade

Subjects
Adult, Male, medicine.medical_specialty, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, immune system diseases, Antiphospholipid syndrome, Internal medicine, Humans, Medicine, Registries, neoplasms, 030203 arthritis & rheumatology, biology, Clinical events, business.industry, Middle Aged, medicine.disease, Clinical trial, Baseline characteristics, Cohort, Antibodies, Antiphospholipid, biology.protein, Female, Anticardiolipin antibodies, Core laboratory, Antibody, business
Abstract

To describe the baseline characteristics of patients with positivity for antiphospholipid antibodies (aPLs) who were enrolled in an international registry, the Antiphospholipid Syndrome (APS) Alliance for Clinical Trials and International Networking (APS ACTION) clinical database and repository, overall and by clinical and laboratory subtypes.The APS ACTION registry includes adults who persistently had positivity for aPLs. We evaluated baseline sociodemographic and aPL-related (APS classification criteria and "non-criteria") characteristics of patients overall and in subgroups (aPL-positive without APS, APS overall, thrombotic APS only, obstetric APS only, and both thrombotic APS/obstetric APS). We assessed baseline characteristics of patients tested for the presence of three aPLs (lupus anticoagulant [LAC] test, anticardiolipin antibody [aCL], and anti-βThe 804 aPL-positive patients assessed in the present study had a mean age of 45 ± 13 years, were 74% female, and 68% White; additionally, 36% had other systemic autoimmune diseases. Of these 804 aPL-positive patients, 80% were classified as having APS (with 55% having thrombotic APS, 9% obstetric APS, and 15% thrombotic APS/obstetric APS). In the overall cohort, 71% had vascular thrombosis, 50% with a history of pregnancy had obstetric morbidity, and 56% had experienced at least one non-criteria manifestation. Among those with three aPLs tested (n = 660), 42% were triple aPL-positive. While single-, double-, and triple aPL-positive subgroups had similar frequencies of vascular, obstetric, and non-criteria events, these events were lowest in the single aPL subgroup, which consisted of aCLs or anti-βOur study demonstrates the heterogeneity of aPL-related clinical manifestations and laboratory profiles in a multicenter international cohort. Within single aPL positivity, LAC may be a major contributor to clinical events. Future prospective analyses, using standardized core laboratory aPL tests, will help clarify aPL risk profiles and improve risk stratification.

Published
2022

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